Brown-Vialetto-Van Laere syndrome.

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm. We report a five-year-old girl with BVVLS that manifest with hearing problems, first. There was obvious improvement in her disease clinical signs with riboflavin supplementation treatment.

Comparison of birth weights of neonates of mothers receiving vs. not receiving zinc supplement at pregnancy.

BACKGROUND: Zinc is an essential element for normal embryogenesis and embryonic and neonatal development. Therefore, we compared the birth weights of neonates born to mothers who consumed zinc supplement during pregnancy with that of neonates born to mothers who did not. METHODS: In a cross-sectional study, we divided 200 pregnant mothers into two groups: case group (mothers receiving zinc supplement during pregnancy) and control group (mothers not receiving zinc supplement during pregnancy) Then, the neonate's cord zinc level and mother's serum level were measured and neonate's growth charts (weight, height and head circumference)were completed. RESULTS: In this study, both groups of mothers were observed to have zinc deficiency; 35% of the mothers who consumed zinc supplements and 81% of the mothers who did not consume zinc supplements (P < 0.001). Based on the results, maternal serum of zinc (P < 0.001), neonatal birth weight (P = 0.008), maternal age (P < 0.001) and parity (P < 0.01) in zinc-supplemented group were higher. Neonatal birth weight was associated moderately with mother's zinc serum levels and poorly with neonatal serum zinc levels. CONCLUSION: Zinc consumption during pregnancy increases serum zinc level of mother and neonatal weight. Neonatal weight has a higher correlation to maternal serum zinc level.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

PURPOSE: Biallelic CAD variants underlie CAD deficiency (or early infantile epileptic encephalopathy-50, [EIEE-50]), an error of pyrimidine de novo biosynthesis amenable to treatment via the uridine salvage pathway. We further define the genotype and phenotype with a focus on treatment. METHODS: Retrospective case series of 20 patients. RESULTS: Our study confirms CAD deficiency as a progressive EIEE with recurrent status epilepticus, loss of skills, and dyserythropoietic anemia. We further refine the phenotype by reporting a movement disorder as a frequent feature, and add that milder courses with isolated developmental delay/intellectual disability can occur as well as onset with neonatal seizures. With no biomarker available, the diagnosis relies on genetic testing and functional validation in patient-derived fibroblasts. Underlying pathogenic variants are often rated as variants of unknown significance, which could lead to underrecognition of this treatable disorder. Supplementation with uridine, uridine monophosphate, or uridine triacetate in ten patients was safe and led to significant clinical improvement in most patients. CONCLUSION: We advise a trial with uridine (monophosphate) in all patients with developmental delay/intellectual disability, epilepsy, and anemia; all patients with status epilepticus; and all patients with neonatal seizures until (genetically) proven otherwise or proven unsuccessful after 6 months. CAD deficiency might represent a condition for genetic newborn screening.